Canonical Allele Identifier: CA236633719
Community Standard Title: NM_003482.4(KMT2D):c.15529A>G (p.Met5177Val)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49026437T>C , CM000674.2:g.49026437T>C GRCh38
NC_000012.11:g.49420220T>C , CM000674.1:g.49420220T>C GRCh37
NC_000012.10:g.47706487T>C NCBI36
NG_027827.1:g.33888A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.15529A>G MANE Select NP_003473.3:p.Met5177Val
ENST00000301067.12:c.15529A>G MANE Select ENSP00000301067.7:p.Met5177Val
NM_003482.3:c.15529A>G NP_003473.3:p.Met5177Val
ENST00000301067.11:c.15529A>G ENSP00000301067.7:p.Met5177Val
ENST00000683543.2:c.15529A>G ENSP00000506726.1:p.Met5177Val
ENST00000683863.1:n.9A>G
ENST00000684428.1:c.64A>G ENSP00000507433.1:p.Met22Val
ENST00000684755.1:n.64A>G
ENST00000685024.1:c.654A>G
ENST00000685166.1:c.15538A>G ENSP00000509386.1:p.Met5180Val
ENST00000688411.1:c.261+1366A>G ENSP00000510146.1:n.261+1366A>G
ENST00000691463.1:c.915A>G ENSP00000510624.1:n.915A>G
ENST00000692637.1:c.15526A>G ENSP00000509666.1:p.Met5176Val
XM_005269162.3:c.15529A>G XP_005269219.1:p.Met5177Val
XM_005269162.4:c.15529A>G XP_005269219.1:p.Met5177Val
XM_006719614.2:c.15538A>G XP_006719677.1:p.Met5180Val
XM_006719614.4:c.15538A>G XP_006719677.1:p.Met5180Val
XM_006719616.2:c.15526A>G XP_006719679.1:p.Met5176Val
XM_006719616.3:c.15526A>G XP_006719679.1:p.Met5176Val
XM_011538770.1:c.15538A>G XP_011537072.1:p.Met5180Val
XM_011538770.2:c.15538A>G XP_011537072.1:p.Met5180Val
XM_011538771.1:c.15535A>G XP_011537073.1:p.Met5179Val
XM_011538771.2:c.15535A>G XP_011537073.1:p.Met5179Val
XM_011538772.1:c.15529A>G XP_011537074.1:p.Met5177Val
XM_011538772.2:c.15529A>G XP_011537074.1:p.Met5177Val
XM_011538773.1:c.15526A>G XP_011537075.1:p.Met5176Val
XM_011538773.2:c.15526A>G XP_011537075.1:p.Met5176Val
XM_011538774.1:c.15517A>G XP_011537076.1:p.Met5173Val
XM_011538774.2:c.15517A>G XP_011537076.1:p.Met5173Val
XM_011538775.1:c.15472A>G XP_011537077.1:p.Met5158Val
XM_011538776.1:c.15445A>G XP_011537078.1:p.Met5149Val
XM_011538776.2:c.15445A>G XP_011537078.1:p.Met5149Val
XR_001748874.1:n.15961+1366A>G
XR_944740.1:n.16972+1366A>G